Accelerating Medicines Partnership (AMP)
The Accelerating Medicines Partnership (AMP) is a public-private partnership between the National Institutes of Health (NIH), the U.S. Food and Drug Administration (FDA), multiple biopharmaceutical and life science companies and non-profit organizations to transform the current model for developing new diagnostics and treatments by jointly identifying and validating promising biological targets for therapeutics. See NIH AMP homepage.
Audit and Compliance Team (ACT)
The AMP PD Audit and Compliance Team (ACT) monitors public activities on the AMP PD Knowledge Platform through periodic audits to assess compliance with the AMP PD governance policies. Email the AMP PD ACT: ampPDemail@example.com.
BioFIND is a collaboration between MJFF and the National Institute of Neurological Disorders and Stroke (NINDS). BioFIND is one of the core AMP PD cohorts and study data contributors. See BioFIND.
Clinical Data Interchange Standards Consortium (CDISC)
The Clinical Data Interchange Standards Consortium (CDISC) develops data standards by analyzing and transforming incompatible formats, inconsistent methodologies, and diverse perspectives into a powerful framework for generating clinical research data that is as accessible and reusable. See CDISC
Deep Brain Stimulation (DBS)
Deep Brain Stimulation (DBS) is a surgical treatment for Parkinson's which delivers electrical pulses to brain cells to decrease symptoms.
FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores. Both the sequence letter and quality score are each encoded with a single ASCII character for brevity.
Food and Drug Administration (FDA)
The Food and Drug Administration (FDA) is a federal government partner affiliated with AMP PD. See FDA.
Foundation for the National Institutes of Health (FNIH)
The Foundation for the National Institutes of Health (FNIH) procures funding and manages alliances with public and private institutions in support of the mission of the National Institutes of Health (NIH), the premier medical research agency. FNIH is a non-profit AMP PD partner. See FNIH.
Genome Analysis Toolkit (GATK)
The Genome Analysis Toolkit (GATK) is developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools with a primary focus on variant discovery and genotyping.
Global Unique Identifier (GUID)
The Global Unique Identifier (GUID) is a Global Unique Identifier for each study participant that allows researchers to aggregate and share a participant’s data without exposing personally identifiable information (PII). The GUID is made up of random alpha-numeric characters and is not generated from PII/PHI.
Harvard Biomarkers Study (HBS)
The Harvard Biomarkers Study (HBS) is one of the core AMP PD cohorts and study data contributors. See HBS.
Hoehn & Yahr (H&Y)
The Hoehn and Yahr scale is a commonly used system for describing how the symptoms of Parkinson's disease progress.
International LBD Genomics Consortium (iLBDGC)
International LBD Genomics Consortium (iLBDGC) study overview: Genome Sequencing in Lewy Body Dementia and Neurologically Healthy Controls: A Resource for the Research Community. These data were generated by the International LBD Genomics Consortium (iLBDGC), under the co-directorship by Dr. Bryan J. Traynor and Dr. Sonja W. Scholz from the Intramural Research Program of the U.S. National Institutes of Health. For a complete list of contributors, please see attached document.
Lewy Body Dementia Genetics Consortium Genome Sequencing in Lewy body dementia case-control cohort (LBD)
The LBD cohort was collected by the International Lewy Body Dementia Genomics Consortium (iLBDGC) for the purpose of understanding the genetic architecture of Lewy Body Dementia (LBD). The cohort includes 4623 subjects with the diagnosis of LBD (69% pathologically confirmed) and normal controls recruited from 44 European and North American sites. See LBD.
LRRK2 Cohort Consortium (LCC)
The LRRK2 Cohort Consortium (LCC) was created to assemble and study groups of people with and without Parkinson’s disease who carry mutations in the LRRK2 gene. It comprises three closed studies that followed standardized data acquisition protocols: the LRRK2 Cross-sectional Study, LRRK2 Longitudinal Study and the 23andMe Blood Collection Study. See LCC.
The Movement Disorder Society – Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) is a tool to assess Parkinson's disease. The goal of the UPDRS was to provide a comprehensive, practical, and easy to administer scale that can be used across all patients regardless of severity, medication treatment, or age
Michael J. Fox Foundation (MJFF)
The Michael J. Fox Foundation (MJFF) is a non-profit AMP PD partner and parent organization for the BioFIND and PPMI cohorts. See MJFF.
Montreal Cognitive Assessment (MoCA)
The Montreal Cognitive Assessment (MoCA) assessment is a rapid screening instrument for mild cognitive dysfunction. It assesses different cognitive domains: attention and concentration, executive functions, memory, language, visuoconstructional skills, conceptual thinking, calculations, and orientation.
National Institutes of Health (NIH)
The National Institute of Health (NIH) is a federal government partner affiliated with AMP PD. See NIH.
National Institutes of Neurological Disorders and Stroke (NINDS)
The National Institutes of Neurological Disorders and Stroke (NINDS) is an NIH Institute that seeks fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS is a federal government partner affiliated with AMP PD. See NINDS.
Parkinson's disease (PD)
Parkinson's disease is a chronic, degenerative neurological disorder.
Parkinson's Disease Biomarkers Program (PDBP)
The National Institute of Neurological Disorders and Stroke (NINDS) Parkinson's Disease Biomarkers Program (PDBP) was developed to accelerate the discovery of promising new diagnostic and progression biomarkers for Parkinson's Disease. PDBP is made up of researchers, patients, family members, and healthcare professionals who are dedicated to accelerating the pace of biomarkers research and is one of the core AMP PD cohorts and study data contributors. See PDBP.
Parkinson's Progression Markers Initiative (PPMI)
The Parkinson's Progression Markers Initiative is a longitudinal study of a cohort of individuals with early stage Parkinson's disease, towards the goal of validation of biomarkers. PPMI is funded by the Michael J. Fox Foundation (MJFF). PPMI is one of the core AMP PD cohorts and study data contributors. See PPMI.
Safety, Tolerability and Efficacy Assessment of Dynacirc CR in Parkinson Disease (STEADY-PD3)
Safety, Tolerability and Efficacy Assessment of Dynacirc CR in Parkinson Disease (STEADY-PD3) was conducted as a randomized Phase 3, 2-arm, double-blind, parallel group trial with subjects randomized to Isradipine immediate release 5 mg or matching placebo twice daily for 36 months. The primary efficacy measure was the change in the total UPDRS score in the active treatment arm versus placebo between the baseline and 36 months. If patients needed to start symptomatic therapy, they continued on their randomized treatment assignment in conjunction with the symptomatic therapyand primary outcome was assessed in the medications ON state. The primary analysis was based on the intent-to-treat principle and included all subjects who had 36 month data. The study had 95 % retention rate.
The study was negative for the primary outcome, showing no difference in PD symptoms over the 3 years of the study between the active and placebo arms.
Salmon is a tool for fast transcript quantification from RNA-seq data. See Salmon.
Spliced Transcripts Alignment to a Reference (STAR)
The Spliced Transcripts Alignment to a Reference (STAR) software package performs mapping of large sets of high-throughput sequencing reads to a reference genome for RNA-seq data analysis. See STAR.
Study of Urate Elevation in Parkinson’s Disease, phase 3 (SURE-PD3)
Study of Urate Elevation in Parkinson's Disease, Phase 3 (SURE-PD3) was a randomized, double-blind, placebo-controlled trial of urate-elevating inosine treatment to slow clinical decline in early PD. The primary aim of this study was to determine whether oral inosine dosed to moderately elevate serum urate (from ≤5.7 mg/dL to 7.1-8.0 mg/dL) over 2 years slows clinical decline in early PD, assessed as change in the primary outcome variable of the Movement Disorders Society-Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). Secondary aims include assessing long-term safety and effects on a) the development of disability warranting dopaminergic medication, b) short-term changes in parkinsonian symptoms, c) changes in functional disability and quality of life, d) non-motor measures of cognition, mood and autonomic function, and e) loss of striatal dopamine transporter signal.
Variant Call Format (VCF)
Variant Call Format (VCF) is a common file format developed by the genomics scientific community. It contains information about variants found at specific positions in a reference genome.
Whole Genome Sequencing (WGS)
Whole Genome Sequencing (WGS) is the process of determining the complete DNA sequence of an organism's genome at a single time.
Workflow Description Language (WDL)
Workflow Description Language (WDL) is meant to be a human readable and writable way to express tasks and workflows.